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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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Vis graf over relationer

α-methylacyl-CoA racemase (AMACR) deficiency is a rare disorder, affecting peroxisomal metabolism of pristanic acid, with ten published adult cases. We describe an AMACR deficiency case with a clinical presentation dominated by episodic hyperCKaemia, suggesting that myopathic features of AMACR should be considered.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Neurology
Vol/bind28
Udgave nummer2
Sider (fra-til)729-731
Antal sider3
ISSN1351-5101
DOI
StatusUdgivet - feb. 2021

ID: 61071064